Variant report
Variant | rs12312622 |
---|---|
Chromosome Location | chr12:73108332-73108333 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
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No data |
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rs_ID | r2[population] |
---|---|
rs10748204 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10784982 | 0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10784983 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10784984 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10879478 | 0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10879479 | 0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10879480 | 0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10879481 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10879483 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10879484 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11179326 | 0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs11179331 | 0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11179332 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11179335 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11179337 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11179338 | 0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs11609154 | 0.86[ASN][1000 genomes] |
rs11609778 | 0.80[ASN][1000 genomes] |
rs11610992 | 1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11615014 | 0.86[ASN][1000 genomes] |
rs12299032 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12305137 | 0.94[AMR][1000 genomes];0.80[ASN][1000 genomes] |
rs12305961 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12317266 | 0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12423680 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1433251 | 0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1490500 | 0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1490501 | 0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1807989 | 0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1835865 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4572181 | 0.87[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs60748198 | 0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs724275 | 0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs724995 | 0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs7295380 | 0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7305043 | 0.87[EUR][1000 genomes] |
rs7954980 | 0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs7955144 | 0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7962753 | 0.85[AMR][1000 genomes];0.86[ASN][1000 genomes] |
rs7963322 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7963425 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7963617 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7964348 | 0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7968289 | 0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7976791 | 0.83[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs9652038 | 0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs9652039 | 0.91[AMR][1000 genomes] |
rs970240 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs9919777 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2422452 | chr12:72485933-73175581 | Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
2 | nsv899257 | chr12:72569746-73145896 | ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
3 | nsv1044083 | chr12:72647640-73275526 | Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
4 | nsv469465 | chr12:72655925-73259114 | Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
5 | nsv559363 | chr12:72655925-73259114 | Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
6 | nsv868884 | chr12:72664763-73241518 | Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
7 | nsv817280 | chr12:72820558-73508605 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
8 | esv2758314 | chr12:72990707-73251109 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
9 | esv2759908 | chr12:72990707-73251109 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
10 | nsv868885 | chr12:72998553-73587081 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
11 | nsv1048951 | chr12:73018354-73151893 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
12 | nsv1052520 | chr12:73018354-73181472 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
13 | esv34457 | chr12:73082433-73232340 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
14 | esv2757510 | chr12:73082470-73208048 | Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:73105800-73113200 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
2 | chr12:73106800-73110400 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
3 | chr12:73108000-73112400 | Strong transcription | HUES6 Cell Line | embryonic stem cell |